PUBLICATION
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
- Authors
- Alders, M., Hogan, B.M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E.A., Holmberg, E.E., Mannens, M.M., Mulder, M.F., Offerhaus, G.J., Prescott, T.E., Schroor, E.J., Verheij, J.B., Witte, M., Zwijnenburg, P.J., Vikkula, M., Schulte-Merker, S., and Hennekam, R.C.
- ID
- ZDB-PUB-091204-28
- Date
- 2009
- Source
- Nature Genetics 41(12): 1272-1274 (Journal)
- Registered Authors
- Gjini, Evisa, Hogan, Ben M., Schulte-Merker, Stefan, Witte, Merlijn
- Keywords
- none
- MeSH Terms
-
- Abnormalities, Multiple/genetics*
- Amino Acid Sequence
- Animals
- Consanguinity
- Genes, Recessive
- Heterozygote
- Humans
- Intellectual Disability/genetics
- Lymphangiectasis/genetics*
- Lymphedema/genetics*
- Male
- Molecular Sequence Data
- Mutation*
- Pedigree
- Phenotype
- Syndrome
- Young Adult
- PubMed
- 19935664 Full text @ Nat. Genet.
Citation
Alders, M., Hogan, B.M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E.A., Holmberg, E.E., Mannens, M.M., Mulder, M.F., Offerhaus, G.J., Prescott, T.E., Schroor, E.J., Verheij, J.B., Witte, M., Zwijnenburg, P.J., Vikkula, M., Schulte-Merker, S., and Hennekam, R.C. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nature Genetics. 41(12):1272-1274.
Abstract
Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping